Rare Disease Day – Owen is Unique 

Written by IDEA committee member and Grandview Kids parent, Abby V.

Rare Disease Day is an international event held on February 28 to raise awareness about the impact of rare diseases on people’s lives and to emphasize the need for research. Canadian families with rare illnesses are facing extraordinary challenges. These include misdiagnosis, unnecessary surgeries, social isolation, financial hardship and lack of treatment options.

Q: What does Owen like to do? 

A: He loves to listen to stories, go for drives in the car, watch wrestling with his dad, and dance, bake and snuggle on the couch with his mom. Like a typical little brother, he also loves to torment his sister and looks forward to her visits home from school. 

Q: What is Owen’s diagnosis and how rare is it? 

A: Kleefstra Syndrome, a microdeletion at 9q34.3. At the time of diagnosis in 2010, he was only the 124^th person in the world to have Kleefstra Syndrome. With improvements in testing, we now believe there are close to 1000 people worldwide with this diagnosis. 

Q: What is Kleefstra Syndrome? 

A: Kleefstra Syndrome is a rare genetic condition that affects development and involves many body systems. Those with Kleefstra Syndrome are missing the gene EMHT1 which is a regulator for other genes. Symptoms can include intellectual delay, autism, low tone, seizures and speech delay. 

Q: What signs and symptoms led to Owen’s diagnosis? 

A: Owen was not meeting milestones as a baby which was initially believed to be due to his being born 6 weeks early. However, it soon became obvious that his collection of symptoms may have a genetic basis. His nasal bridge was shortened, he had very low tone and was not gaining weight due to feeding and swallowing issues. 

Q: How was Owen diagnosed? 

A: He underwent local testing, and the results came back as unremarkable. We decided to have him do a test in the U.S. that looks for gene changes in cells called FISH testing (fluorescence in situ hybridisation). At the time, this test was not available in Canada and required extensive paperwork and approvals. Now genetic testing is more routine and easier to obtain. 

Q: How has Grandview Kids helped Owen? 

A: Grandview Kids became a big part of Owen and his family’s life soon after diagnosis. He has accessed vital services for his development and well-being, including medical, physiotherapy, occupational therapy, speech-language pathology, recreational therapy, social work and family engagement. Grandview Kids helped build a community of support which without, his family would have been lost. Owen has met many of his milestones at Grandview Kids, including his first words, steps and riding a bike. 

Q: If you could go back to the day of Owen’s diagnosis, what advice would you give to yourselves? 

A: Hold on! Seriously, just let him lead and follow his direction. Nothing changed on diagnosis day. He is still the exact same kid; we just got more information.